Linked Data
ClinVar Variation Id:
1979724
ClinVar RCV Id:
RCV002780076
dbSNP Id:
rs747447584
ExAC:
9:139399279 G / A
gnomAD v2:
9-139399279-G-A
gnomAD v3:
9-136504827-G-A
gnomAD v4:
9-136504827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504827G>A , CM000671.2:g.136504827G>A | GRCh38 |
| NC_000009.11:g.139399279G>A , CM000671.1:g.139399279G>A | GRCh37 |
| NC_000009.10:g.138519100G>A | NCBI36 |
| NG_007458.1:g.45960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2671C>T | ||
| ENST00000651671.1:c.4864C>T MANE Select | ENSP00000498587.1:p.Arg1622Cys | |
| ENST00000679595.1:c.4864C>T | ENSP00000506241.1:p.Arg1622Cys | |
| ENST00000680133.1:c.4750C>T | ENSP00000505319.1:p.Arg1584Cys | |
| ENST00000680218.1:c.4744C>T | ENSP00000505339.1:p.Arg1582Cys | |
| ENST00000680668.1:c.4750C>T | ENSP00000506336.1:p.Arg1584Cys | |
| ENST00000680778.1:c.2461C>T | ENSP00000506033.1:p.Arg821Cys | |
| ENST00000680924.1:c.*2264C>T | ENSP00000506031.1:n.*2264C>T | |
| ENST00000681135.1:c.*2473C>T | ENSP00000506636.1:n.*2473C>T | |
| ENST00000681298.1:n.1677C>T | ||
| ENST00000681454.1:c.*4100C>T | ENSP00000505763.1:n.*4100C>T | |
| ENST00000277541.6:c.4864C>T | ENSP00000277541.6:p.Arg1622Cys | |
| ENST00000494783.1:n.19C>T | ||
| NM_017617.3:c.4864C>T | NP_060087.3:p.Arg1622Cys | |
| XM_011518717.1:c.4165C>T | XP_011517019.1:p.Arg1389Cys | |
| NM_017617.5:c.4864C>T MANE Select | NP_060087.3:p.Arg1622Cys | |
| XM_011518717.2:c.4141C>T | XP_011517019.2:p.Arg1381Cys |